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A new HLA-C allele with an alternative splice site in exon 3: HLA-C*03:23N.
Shimizu, Marie; Kuroda, Yukari; Uchida, Miyuki; Takada, Shinnosuke; Kamada, Hiromi; Takahashi, Daisuke; Nakajima, Fumiaki; Miyata, Shigeki; Igarashi, Shigeru; Satake, Masahiro.
Afiliación
  • Shimizu M; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Kuroda Y; Kyushu Block Blood Center, Japanese Red Cross Society, Fukuoka, Japan.
  • Uchida M; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Takada S; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Kamada H; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Takahashi D; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Nakajima F; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Miyata S; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Igarashi S; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
  • Satake M; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
HLA ; 95(6): 555-560, 2020 06.
Article en En | MEDLINE | ID: mdl-32034867
We identified a probable new null HLA-C allele, C*03:23N, which originated from C*03:04:01:02, but does not react with Cw3 antibodies. This allele was identified by sequence analysis, which indicated that a single G-to-A substitution at position 406 in exon 3 created a null allele under a new mechanism: the mutation changes the position of the intron 2-exon 3 splice site to be further into exon 3, leading to a frameshift and a premature stop codon. Sequence analysis of cDNA confirmed the existence of the causative alternative acceptor splice site and the resultant deletion of 64 nucleotides in exon 3. Analysis of 220 blood or bone marrow donors in Japan with C*03:23N demonstrated that Japanese HLA-C*03:23N is on the haplotype A*26:01∼C*03:23N∼B*40:02∼DRB1*09:01.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Antígenos HLA-C / Sitios de Empalme de ARN Límite: Humans Idioma: En Revista: HLA Año: 2020 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Antígenos HLA-C / Sitios de Empalme de ARN Límite: Humans Idioma: En Revista: HLA Año: 2020 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido